Glycosidases are ubiquitous enzymes that catalyze the hydrolysis of glycosidic linkages in
oligosaccharides and glycoconjugates. These enzymes play a vital role in a wide variety of …

Protein folding is a complex, error-prone process that often results in an irreparable protein
by-product. These by-products can be recognized by cellular quality control machineries …

Lysosomal storage disorders (LSDs) are a group of inborn metabolic diseases caused by
mutations in genes that encode proteins involved in different lysosomal functions, in most …

GM2 gangliosidoses are a group of pathologies characterized by GM2 ganglioside
accumulation into the lysosome due to mutations on the genes encoding for the β …

Gaucher disease (GD), the most prevalent lysosomal storage disease, is caused by a
deficiency of glucocerebrosidase (GCase). The identification of small molecules acting as …

Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations
in proteins critical for lysosomal function. Such proteins include lysosomal enzymes …

Loss-of-function diseases are often caused by a mutation in a protein traversing the
secretory pathway that compromises the normal balance between protein folding, trafficking …

Lysosomal storage diseases (LSDs) are a group of genetic disorders due to defects in any
aspect of lysosomal biology. During the past two decades, different approaches have been …

Lysosomal enzymes are responsible for the degradation of a wide variety of glycolipids,
oligosaccharides, proteins, and glycoproteins. Inherited mutations in the genes that encode …

Abstract Lysosomal Storage Disorders (LSDs) are a diverse group of inherited, monogenic
diseases caused by functional defects in specific lysosomal proteins. The lysosome is a …